ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2172+5G>C

dbSNP: rs797045347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193917 SCV000246669 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001044291 SCV001208081 likely pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2019-02-14 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID:10319589, 21208200). This variant has been observed in multiple individuals affected with Menkes disease  (PMID: 10319589, 21494555, 21208200). This variant is also know as c.2317+5G>C ClinVar contains an entry for this variant (Variation ID: 210415). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the ATP7A gene. It does not directly change the encoded amino acid sequence of the ATP7A protein, but it affects a nucleotide within the consensus splice site of the intron.
Inherited Neuropathy Consortium Ii, University Of Miami RCV000193917 SCV004012028 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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